Varaico: Literature-Extracted Genetic Variants

Gene:RASA3
Variant:p.S766L

RASA3

98 papers

RefSeq Summary

This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. I...

Pfam Domains

C2aa 12–114UCSCC2 domain
C2aa 12–114UCSCC2 domain
C2aa 12–114UCSCC2 domain
C2aa 145–265UCSCC2 domain
C2aa 145–265UCSCC2 domain
RasGAPaa 351–423UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS p21 protein activator 3

HGNC Alias Symbols

GAP1IP4BP; GAPIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007368.4
p.S766L
c.2297C>T
Surrounding Variants
1 paper
NM_007368.4
p.D772N
c.2314G>A
1 paper
NM_007368.4
p.K778N
c.2334G>T
1 paper
NM_007368.4
p.K778N
c.2334G>C
2 papers
NM_007368.4
p.A750delFs
c.2250delG
3 papers
NM_007368.4
p.H794L
c.2381A>T
1 paper
NM_007368.4
p.Y807H
c.2419T>C
1 paper
NM_007368.4
p.T829T
c.2487C>T
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